Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942098
rs28942098
CDC73 ; LOC101929160
0.710 GeneticVariation BEFREE A germline p.M1I mutation has been previously reported in a family with clinical features of HPT-JT. 30452964

2019
dbSNP: rs28942098
rs28942098
CDC73 ; LOC101929160
A 0.710 CausalMutation CLINVAR

dbSNP: rs121434262
rs121434262
CDC73 ; LOC101929160
T 0.700 CausalMutation CLINVAR

dbSNP: rs587776559
rs587776559
CDC73
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356649
rs80356649
CDC73
AAG 0.700 CausalMutation CLINVAR

dbSNP: rs971586985
rs971586985
CDC73
0.700 GeneticVariation UNIPROT

dbSNP: rs886041158
rs886041158
CDC73 ; LOC101929160
0.010 GeneticVariation BEFREE Genetic studies identified de novo HRPT2 germline mutations in cases 1 (c.518_521delTGTC [p.Ser174LysfsX27]) and 2 (c.226 C > T [p.Arg76X]), unveiling the hereditary HPT-JT syndrome in both patients. 21360064

2011
dbSNP: rs767363250
rs767363250
CASR
0.010 GeneticVariation BEFREE Patients 3 and 4 and their relatives did not have MEN1 mutations, but instead had familial hypocalciuric hypercalcaemia (FHH) due to a calcium-sensing receptor mutation (p.Arg680Cys), and the hyperparathyroidism-jaw tumour (HPT-JT) syndrome due to a hyperparathyroidism type 2 deletional-frameshift mutation (c.1239delA), respectively. 19953642

2010